Canonical Allele Identifier: CA1673366

Gene: PEX13

Linked Data

• ClinVar Variation Id: 336669
• ClinVar RCV Id: RCV000592320 ; RCV001083100 ; RCV004549766
• dbSNP Id: rs201699810
• ExAC: 2:61272929 G / A
• gnomAD v2: 2-61272929-G-A
• gnomAD v3: 2-61045794-G-A
• gnomAD v4: 2-61045794-G-A
• COSMIC: COSM1022043
• MyVariant Identifiers: chr2:g.61272929G>A (hg19) ; chr2:g.61045794G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.61045794G>A , CM000664.2:g.61045794G>A	GRCh38
NC_000002.11:g.61272929G>A , CM000664.1:g.61272929G>A	GRCh37
NC_000002.10:g.61126433G>A	NCBI36
NG_008665.1:g.33118G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295030.6:c.856G>A MANE Select	ENSP00000295030.4:p.Val286Ile
ENST00000295030.5:c.856G>A	ENSP00000295030.4:p.Val286Ile
NM_002618.3:c.856G>A	NP_002609.1:p.Val286Ile
XM_011532904.1:c.739G>A	XP_011531206.1:p.Val247Ile
NM_002618.4:c.856G>A MANE Select	NP_002609.1:p.Val286Ile